| Variation | | Type (Consequence) | Condition | Classification, Review status |
|---|
| | LOC101928008, SBF2 (P866T +1 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +1 more | |
| | SBF2, LOC101928008 (A632T +1 more) | Single nucleotide variant (missense variant) | Charcot-Marie-Tooth disease type 4 +2 more | |
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